Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000722000 | SCV002448523 | likely benign | Mucopolysaccharidosis type 7 | 2024-01-16 | criteria provided, single submitter | clinical testing | |
Prevention |
RCV003928212 | SCV004738131 | likely benign | GUSB-related condition | 2023-04-12 | criteria provided, single submitter | clinical testing | This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). |
Sing |
RCV000722000 | SCV000853164 | uncertain significance | Mucopolysaccharidosis type 7 | 2017-06-07 | no assertion criteria provided | curation |